(Q36389290)

English

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X) (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

adrenal insufficiency

1 reference

based on heuristic

inferred from title

object named as

Nils Krone

8

0 references

object named as

Wiebke Arlt

7

0 references

6

object named as

Vivek Dhir

1 reference

Europe PubMed Central

13 August 2017

PMC publication ID

1

object named as

Silvia Parajes

1 reference

Europe PubMed Central

13 August 2017

PMC publication ID

author name string

Angel O K Chan

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

W M But

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Ian T Rose

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Angela E Taylor

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

publication date

11 September 2012

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

European Journal of Endocrinology

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

167

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

881-885

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Progesterone synthesis by the human placenta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

30 September 2017

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

28 June 2018

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

28 June 2018

A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

21 September 2018

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3494866

21 September 2018

A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1530/EJE-12-0450

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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